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Latest Genetic disorders Stories

2012-06-18 22:04:28

A novel candidate gene in human early-onset degenerative ataxias Researchers at the University of Helsinki and the Folkhälsan Research Center, Finland, have identified the genetic cause of early-onset progressive cerebellar degeneration the Finnish Hound dog breed. The study, led by Professor Hannes Lohi, revealed a new disease mechanism in cerebellar degeneration. A mutation was identified in the SEL1L gene, which has no previous link to inherited cerebellar ataxias....

2012-06-15 10:13:25

The first U.S. population prevalence study of mutations in the gene that causes fragile X syndrome, the most common inherited form of intellectual disability, suggests the mutation in the gene — and its associated health risks — may be more common than previously believed. Writing this month (June 2012) in the American Journal of Medical Genetics, a team of Wisconsin researchers reports that the cascade of genetic amino acid repeats, which accumulate over generations and...

2012-06-11 23:03:39

Models will facilitate a better understanding of the disease and aid in therapeutic development. Sioux Center, Iowa (PRWEB) June 11, 2012 CHDI Foundation, Inc. and Exemplar Genetics today announced a collaborative research agreement to create multiple miniature swine models of Huntington´s disease (HD), a devastating disorder for which there are currently no effective treatments. Models that mimic this debilitating disease are anticipated to accelerate both the understanding of the...

2012-06-11 23:00:42

HUNTINGTON´S DISEASE, for the FIRST time in history was treated in March 2012 by Dr.´s Feinerman and Paino in our state of the art clinic in Lima, Peru. Two sisters with this debilitating disease will be followed over the next year after a very successful treatment. You can follow the progress and see other testimonials on our website, http://www.stemcellregenmed.com Aventura, North Miami, Florida (PRWEB) June 11, 2012 In a time of such an amazing biotechnology medical era in...

Fetal Genome Mapped Through Maternal-Paternal DNA
2012-06-07 10:34:23

Scientists have successfully sequenced the genome of a fetus after taking a blood sample from a woman who was 18 weeks pregnant, and a swab of saliva from the father -- a move that could play a significant role in the screening of rare disorders before the child is even born. The research, published in the journal Science Translational Medicine, is not the first study to have shown a fetal genome can be glimpsed with a sample of the mother´s blood, but does offer a more accurate...


Latest Genetic disorders Reference Libraries

44_b4e6022f2dde476f8bd4cab961972a2d
2007-12-13 19:44:51

The Munchkin is a fairly new breed of cat with a lot of controversy surrounding it. The breed is created by a mutation that causes achondroplasia, or hypochondroplasia, which results in the cats having abnormally short legs. The breed originated when a pregnant, short-legged black cat was discovered in Louisiana in 1983. One of her kittens, a tomcat, became the father of the breeding program for Munchkins. Several cat registries refuse to recognize the breed due to the controversy that...

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Word of the Day
virgule
  • A punctuation mark (/) used to separate related items of information.
  • A little rod; a twig.
This word comes from the Late Latin 'virgula,' accentual mark, a diminutive of 'virga,' rod.
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